High risk screening and disease spectrum for 24 kinds of lysosomal storage diseases
10.3760/cma.j.issn.2095-428X.2018.20.004
- VernacularTitle:溶酶体贮积病24种高危筛查及疾病谱分析
- Author:
Xiaoyuan ZHAO
1
;
Yonglan HUANG
;
Huiying SHENG
;
Yunting LIN
;
Xiuzhen LI
;
Xueying SU
;
Yuyu FENG
;
Yanna CAI
;
Li LIU
Author Information
1. 510623,广州医科大学附属广州市妇女儿童医疗中心遗传与内分泌科
- Keywords:
Lysosomal storage diseases;
Enzymes;
Mucopolysaccharidosis;
Sphingolipidoses
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(20):1537-1540
- CountryChina
- Language:Chinese
-
Abstract:
Objective To evaluate the sensitivity and specificity of enzyme assays,and to provide disease spectrum of lysosomal storage diseases (LSDs).Methods Three thousand three hundred and sixty-four high risk individuals were screened for 24 LSDs at Guangzhou Women and Children's Medical Center between January 2009 and December 2016.Twenty-two kinds of enzyme activities from peripheral blood leucocytes or plasma were measured by using the fluorometry or colorimetry of corresponding artificial substrates,screening for 24 LSDs diseases.Measurement data were represented by (x) ± s,and count data were expressed as a percentage or composition ratio.Results A total of 283 subjects were diagnosed with 18 different kinds of LSDs,and the positive rate of high-risk screening was 8.4％.Among the identified patients,172 cases (60.8％) were mucopolysaccharidosis (MPS),79 cases (27.9％) were sphingolipidoses,18 cases (6.4％) were Pompe diseases,10 cases (3.5％) were affected with mucolipidoses,3 cases (1.1％) were glycoprotein storage diseases,and 1 case(0.4％) was Wolman disease.Of the MPS cases,there were 75 cases of MPS Ⅱ (43.6％),45 cases of MP5 ⅣA (26.2％),24 cases of MPS Ⅵ (14.0％) and 20 cases of MPS Ⅰ (11.6％).Gaucher disease (23/79 cases,29.1％) and metachromatic leukodystrophy (MLD) (21/79 cases,26.6％) were common in sphingolipidoses group.Both the sensitivity and specificity of enzyme assays on peripheral blood leucocytes for LSDs were 100％.Conclusions The most common kinds of LSDs are MPS Ⅱ,MPS Ⅳ A,MPS Ⅵ,Gaucher disease,MLD and Pompe disease.Leukocyte enzymology analysis of high-risk screening LSDs has high sensitivity and specificity.
